Assisted reproductive technologies at the nexus of fertility treatment and disease prevention.

Assisted reproductive technology (ART) refers to processing gametes in vitro and usually involves in vitro fertilization. Originally developed for the treatment of infertility, culture of human embryos in vitro also provides an opportunity to screen embryos for inherited genetic disorders of the nuclear and mitochondrial genomes. Progress in identifying causative genetic variants has massively increased the scope of preimplantation genetic testing in preventing genetic disorders.

Increased miscarriage of euploid pregnancies in obese women undergoing cryopreserved embryo transfer.

Obesity is known to be associated with an increased risk of miscarriage after natural and assisted conception. Although most sporadic miscarriages are caused by genetic abnormalities, it is presently uncertain if genetics is also the underlying mechanism leading to increased pregnancy loss seen in obese women. Karyotyping of the products of conception suggests a reduced rate of fetal aneuploidy in miscarriages from obese compared with lean individuals.

Serum anti-Mullerian hormone assessment of ovarian reserve and polycystic ovary syndrome status over the reproductive lifespan.

Background: To determine normal ranges for serum anti-Mullerian hormone (AMH) using the new automated Elecsys AMH assay platform, with a view to establishing values that signify premature loss of ovarian reserve, increased risk for an excessive response during IVF stimulation and a likely diagnosis of polycystic ovary syndrome (PCOS).

Materials And Methods: Serum AMH was measured by the Elecsys automated electrochemiluminescence assay in 654 women undergoing gynaecological assessment.

Results: Serum AMH levels peaked before 25 years of age, with mean AMH levels halving by 36 and falling to a quarter of their peak by 40 years of age.